Product Details

SNP ID

hCV32358054

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:22172123 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGAACGGGACGTACCACCACCAC[A/C]ACCACCACCACCACCACCATCCGAG

Phenotype

MIM: 601656

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GATA6 PubMed Links

Gene Details

Gene

GATA6

Gene Name

GATA binding protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005257.5	1262	Missense Mutation	AAC,CAC	N327H	NP_005248.2

Gene

GATA6-AS1

Gene Name

GATA6 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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